Hirschsprung's (HIRSH-sproongz) disease is a condition that affects the large intestine (colon) and causes problems with passing stool. Hirschsprung's disease is present when a baby is born (congenital) and results from missing nerve cells in the muscles of part or all of the baby's colon.

A newborn who has Hirschsprung's disease is usually unable to have a bowel movement in the first days after birth. In mild cases, the condition might not be detected until later in childhood.

Hirschsprung's disease is treated with surgery to bypass or remove the diseased part of the colon.

Signs and symptoms of Hirschsprung's disease vary with the severity of the condition. Usually signs and symptoms appear shortly after birth, but sometimes they're not apparent until later in life.

Typically, the most obvious sign of Hirschsprung's disease is a newborn's failure to have a bowel movement within 48 hours after birth.

Other signs and symptoms in newborns may include:

Swollen belly

Vomiting, including vomiting a green or brown substance

Constipation or gas, which might make a newborn fussy

Diarrhea

In older children, signs and symptoms can include:

Swollen belly

Chronic constipation

Gas

Failure to gain weight

Fatigue

It's not clear what causes Hirschsprung's disease. It sometimes occurs in families and may in some cases be associated with a genetic mutation.

Hirschsprung's disease occurs when nerve cells in the colon don't form completely. Nerve cells are critical to the functioning of the colon. They control the regular muscle contractions that keep food moving through the bowels.

As a baby develops before birth, bundles of nerve cells (ganglia) normally begin to form between the muscle layers along the length of the colon. This process begins at the top of the colon and ends at the bottom (rectum). In children who have Hirschsprung's disease, the nerve-growing process fails to finish. Most commonly, ganglia fail to form (aganglia) in the last segment of the colon — the rectum and the sigmoid colon. Sometimes aganglia affects the entire colon and even part of the small intestine.

Children who have Hirschsprung's disease are prone to a serious infection of the intestines called enterocolitis.

Enterocolitis is caused by stool backing up behind the immobile section of colon. The stagnant mass of stool provides a fertile environment for bacteria to grow. As the stool mass expands, it presses on the blood vessels in the walls of the colon. Decreased blood flow can lead to a breakdown of the lining of the colon (mucosa), making it susceptible to infection.

Enterocolitis can be a life-threatening complication. It's treated in the hospital with colon cleaning and antibiotics.

Factors that may increase the risk of Hirschsprung's disease include:

Having a sibling who has Hirschsprung's disease. Hirschsprung's disease can be inherited. If you have one child who has the condition, future biological children also might be at risk.

Being male. Hirschsprung's disease is more common in males.

Having other inherited conditions. Hirschsprung's disease is associated with certain inherited conditions, such as inherited heart problems and Down syndrome. It may also be associated with multiple endocrine neoplasia, type IIB — a syndrome that causes noncancerous tumors in the mucous membranes and adrenal glands (located above the kidneys) and cancer of the thyroid gland (located at the base of the neck). Roughly a third of children who have Hirschsprung's disease have other abnormalities.

Hirschsprung's disease is often diagnosed in the hospital shortly after birth. Signs of the disease can also show up later. If your child has signs or symptoms that worry you, particularly constipation and a swollen abdomen, consult the doctor. You may be referred to a digestive disorders specialist (gastroenterologist) or to the emergency department if your child's symptoms are severe.

Here's some information to help you get ready, and what to expect from the doctor.

What you can do

Be aware of any pre-appointment restrictions or instructions. When you make the appointment, ask if there's anything your child needs to do in advance.

Write down any signs or symptoms your child is experiencing, including details about your child's bowel movements — frequency, consistency, color and any associated pain.

Make a list of your child's key medical information, including other conditions he or she is being treated for and the names of any medications, vitamins or supplements your child is taking. Note how much water your child drinks in a typical day.

Write down questions to ask your child's doctor.

Questions to ask the doctor

What is likely causing my child's signs and symptoms?

Are there any other possible causes?

What kinds of tests does my child need?

Does my child have other conditions along with Hirschsprung's disease?

What treatment do you recommend?

If you recommend surgery, what should I expect from my child's recovery?

What's the risk of complications from surgery?

What's my child's long-term prognosis after surgery?

Will my child need to follow a special diet?

Are there any other restrictions that my child will need to follow?

My child has these other health conditions. How can I best manage them together?

Are there any brochures or other printed material that I can take with me? What websites do you recommend?

Don't hesitate to ask questions during your appointment.

What to expect from the doctor

Be ready to answer questions the doctor may ask:

When did your child first begin experiencing symptoms?

Have your child's symptoms stayed the same or gotten worse?

How often does your child have a bowel movement?

Are your child's bowel movements painful?

Are your child's stools loose? Do they contain blood?

Has your child been vomiting?

Does your child tire easily?

What, if anything, seems to improve your child's symptoms?

What, if anything, appears to worsen your child's symptoms?

Has anyone else in your family been diagnosed with Hirschsprung's disease?

What medications is your child taking?

Is there any history of thyroid, parathyroid or glandular disease in your family?

Has your child been diagnosed with other medical conditions?

Your child's doctor may recommend one or more of the following tests to diagnose or rule out Hirschsprung's disease:

Abdominal X-ray using a contrast dye. Barium or another contrast dye is placed into the bowel through a special tube inserted in the rectum. The barium fills and coats the lining of the bowel, creating a clear silhouette of the colon and rectum. The X-ray will often show a clear contrast between the narrow section of bowel without nerves and the normal but often swollen section of bowel behind it.

Measuring control of the muscles around the rectum. A manometry test is typically done on older children and adults. During the manometry test, the doctor inflates a balloon inside the rectum. The surrounding muscle should relax as a result. If it doesn't, Hirschsprung's disease may be the cause.

Removing a sample of colon tissue for testing. Removing a sample of tissue for testing (biopsy) is the surest way to identify Hirschsprung's disease. A biopsy sample can be collected using a suction device and is done on an outpatient basis, meaning it doesn't require a hospital stay.

Surgery

Hirschsprung's disease is treated with surgery to bypass the part of the colon that has no nerve (ganglia) cells. The lining of the diseased part of the colon is stripped away, and normal colon is pulled through the colon from the inside and attached to the anus. This is usually done using minimally invasive (laparoscopic) methods, operating through the anus.

In children who are very ill, surgery may be done in two steps.

First, the abnormal portion of the colon is removed and the top, healthy portion of the colon is connected to a small hole (ostomy) the surgeon creates in the child's abdomen. Stool then leaves the body through the ostomy into a bag that attaches to the end of the intestine that protrudes through the hole in the abdomen. This allows time for the lower part of the colon to heal.

Ostomy procedures include:

Ileostomy. With an ileostomy, the doctor removes the entire colon. Stool leaves the body through the end of the small intestine.

Colostomy. With a colostomy, the doctor leaves part of the colon intact. Stool leaves the body through the end of the large intestine.

Later, the doctor closes the ostomy and connects the healthy portion of the intestine to the rectum or anus.

In a small percentage of children, the entire colon and sometimes a part of the small intestine lacks nerves. The usual treatment in this case is to remove the colon and connect remaining healthy bowel to the anus.

Results of surgery

After surgery, most children pass stool normally — although some may experience diarrhea initially.

Toilet training may take longer because children have to learn how to coordinate the muscles used to pass stool. Long term, it's possible to have continued constipation, swollen belly and leaking of stool (soiling).

Children continue to be at risk of developing bowel infection (enterocolitis) after surgery, especially in the first year. Be aware of signs and symptoms of enterocolitis, and call the doctor immediately if any of these occur:

Bleeding from the rectum

Diarrhea

Fever

Swollen abdomen

Vomiting

Children may experience constipation after surgery to correct Hirschsprung's disease. To help manage constipation:

Serve high-fiber foods. If your child eats solid foods, include high-fiber foods as part of your child's diet. For instance, offer whole grains, such as whole-wheat bread. Reduce servings of refined grains, such as white bread. Encourage your child to eat fruits and vegetables. Cut down on fatty animal-source foods, such as meat and butter. Be aware, though, that a sudden increase in high-fiber foods can make constipation worse — so add high-fiber foods to your child's diet slowly. If your child isn't eating solid foods yet, ask the doctor about formulas that might help relieve constipation.

Increase fluids. Encourage your child to drink more water. One of the colon's jobs is to absorb water from food in the last stages of digestion. If a portion of your child's colon was removed, your child may have trouble absorbing enough water. Drinking more water can help your child stay hydrated, which may help ease constipation.

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